E40K (p.Glu40Lys) variant of CDKN1B (P46527)
E40K (p.Glu40Lys) in CDKN1B (P46527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- rs765527234
- ClinGen CA6457382
- cosmic curated COSV57431
- ClinVar RCV002254867
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.71
- CADD 26.40
- PolyPhen-2 0.55
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)